Canonical Allele Identifier: CA2577505285
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150198_10150200del , CM000665.2:g.10150198_10150200del GRCh38
NC_000003.11:g.10191882_10191884del , CM000665.1:g.10191882_10191884del GRCh37
NC_000003.10:g.10166882_10166884del NCBI36
NG_008212.3:g.13564_13566del , LRG_322:g.13564_13566del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*552_*554del ENSP00000512434.1:n.*552_*554del
ENST00000696143.1:c.1011_1013del ENSP00000512435.1:n.1011_1013del
ENST00000696153.1:c.*233_*235del ENSP00000512444.1:n.*233_*235del
ENST00000256474.3:c.*233_*235del MANE Select ENSP00000256474.3:n.*233_*235del
ENST00000256474.2:c.*233_*235del ENSP00000256474.2:n.*233_*235del
ENST00000345392.2:c.*233_*235del ENSP00000344757.2:n.*233_*235del
NM_000551.3:c.*233_*235del , LRG_322t1:c.*233_*235del NP_000542.1:n.*233_*235del
NM_198156.2:c.*233_*235del NP_937799.1:n.*233_*235del
NM_001354723.1:c.*429_*431del NP_001341652.1:n.*429_*431del
NM_000551.4:c.*233_*235del MANE Select NP_000542.1:n.*233_*235del
NM_001354723.2:c.*429_*431del NP_001341652.1:n.*429_*431del
NM_198156.3:c.*233_*235del NP_937799.1:n.*233_*235del